List of variants studied for Hypogonadotropic hypogonadism 5 with or without anosmia by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)	rs200964201	0.00001
NM_017780.4(CHD7):c.1250G>A (p.Ser417Asn)
NM_017780.4(CHD7):c.1898C>A (p.Ser633Ter)
NM_017780.4(CHD7):c.2499-20A>G	rs1803748923
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)	rs768184220
NM_017780.4(CHD7):c.519del (p.Pro174fs)	rs1809050272
NM_017780.4(CHD7):c.5389G>T (p.Gly1797Ter)
NM_017780.4(CHD7):c.5397del (p.Phe1799fs)
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	rs1554603970
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)	rs1809000474

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.